Genomic Map
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Target Gene Details
Entrez Gene ID: | 84343 |
Gene Name: | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
Gene Aliases: |
BLOC2S1, SUTAL |
Location: |
Chr.3:149129584-149173196 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| HPS3 | NM_001308258.1 | 1 | 179 | NP_001295187.1 |
| NM_032383.4 | 1 | 179 | NP_115759.2 | |
| XM_005247834.3 | 1 | 154 | XP_005247891.1 | |
| XM_017007323.1 | 1 | 154 | XP_016862812.1 | |
| AK055245.1 | 1 | 125 | ||
| AK291631.1 | 1 | 154 | ||
| AK298478.1 | 1 | 111 | ||
| AY033141.1 | 1 | 179 | AAK53457.1 | |
| BC040359.1 | 1 | 116 | AAH40359.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3598140 | Chr.3:149126696 - 149130593 on Build GRCh38 | Loss |
 HPS3
|
| esv2672056 | Chr.3:149123355 - 149138179 on Build GRCh38 | Deletion |
HPS3
|
| esv3598139 | Chr.3:149123365 - 149138174 on Build GRCh38 | Loss |
HPS3
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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